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Am J Hum Genet. 1981 May;33(3):345-53.

Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency.


The mode of inheritance of hepatic mitochondrial carbamyl phosphate synthetase (CPS I) deficiency has not been established conclusively in the past. In this study, hepatic tissue obtained by percutaneous biopsy from all members of the immediate family of two girls affected with partial CPS I deficiency was assayed for CPS I, ornithine transcarbamylase (OTC), and arginase activities. Only values for CPS I activity differed significantly from those in controls. The two affected girls each had markedly reduced CPS I activities of about 6% of the control mean. Their brother had activity well within the normal range. Of greatest significance was the finding that both parents had activities below the 95% confidence limits in controls, and intermediate between the deficient values of the two girls and the control range. The father and mother had, respectively, 32% and 54% of mean control activity. These data indicate that CPS I deficiency is inherited as an autosomal recessive trait and that the two affected girls are homozygous for the mutant gene, their brother is homozygous for the normal allele, and the parents are heterozygous.

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